Source: HPO

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.740 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.730 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.640 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.500 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0038015
Disease: Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia 		0.500 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0035305
Disease: Retinal Detachment
Retinal Detachment 		0.480 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.440 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.420 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0027092
Disease: Myopia
Myopia 		0.420 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0086543
Disease: Cataract
Cataract 		0.410 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0013604
Disease: Edema
Edema 		0.400 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.400 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.340 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.130 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.130 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.130 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0022408
Disease: Arthropathy
Arthropathy 		0.120 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		0.120 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0344290
Disease: Vitreoretinal degeneration
Vitreoretinal degeneration 		0.120 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.120 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C4477006
Disease: Membranous vitreous appearance
Membranous vitreous appearance 		0.120 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.110 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker HPO

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.110 Biomarker HPO